The UMD-APC mutations database
Record ID: 2447

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2149delAp.Met717X

wt codonwt aamutant codonmutant aamutational eventmutation type
ATGMetdel1aFs.Stop at 717Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM6 

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Patient and sample data


Sample IDPatient status
10_APC-025---147PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data